Pubblicazioni John Libbey

Mariani Foundation Paediatric Neurology SeriesUpdates on specific subjects written by European experts and aimed at neurologists, neuro-paediatricians and paediatricians.This well-known Italian Foundation, active worldwide with training and research projects, provides a constant in-depth observatory on the progress of paediatric neurology.

Progressive myoclonus epilepsy strikes healthy children and has a slow yet devastating impact upon their lives. Almost all forms are caused by single gene defects, the majority of which were identified during the genomic era. Accurate clinical diagnosis is now straightforward and research into pathogenesis builds upon our understanding of causation. Future research is likely to lead to new therapeutic approaches while providing us with a better understanding of how the brain, the very essence of our being, operates, gene by gene. As we stand on the cusp of the post-genomic era, the emergence of unprecedented new tools, such as CRISPR and adeno-associated viruses, offers hope that these monogenetic diseases may one day be eliminated altogether. This book outlines the genetic, pathogenetic, pathological, and clinical aspects of progressive myoclonus epilepsies within the context of the post-genomic era.

The rising number of cases in visual disorders during development, over the last decade, has strongly influenced approaches to diagnosis and rehabilitation. Moreover, the study of visual function has evolved not only within an ophthalmological, but also a neurodevelopmental framework: advances in our understanding of the maturation and plasticity of visual system functioning have further guided the progress of such approaches. As a result, the key importance of the developmental age is now widely acknowledged, from as early as the first months of life. This book provides an overview of the diagnosis and treatment of visual disorders in relation to advances in neurodevelopmental studies. The concept of early and multimodal management is discussed, with a focus on neuro-psycho-ophthalmological issues. The need for training courses aimed at semiological aspects and methodological and rehabilitative strategies is established, as being of significant value to clinical practice.

Cognitive and behavioural neurology is increasingly the focus of attention from the neurosciences, both in adults and children. This field combines a number of specialties including neurophysiology, anatomy, developmental neurobiology, new neuroimaging techniques and genetics, to ensure that neurological conditions are approached from different perspectives. Appropriate cognitive/behavioural evaluation methods should based upon the known characteristics of neuropathology, molecular genetics and neurophysiology of the disorders. This book provides an update on neurocognitive and behavioural deficits observed in developmental neurology (epilepsy, brain malformations, tumours, autistic spectrum disorders, syndromic and non-syndromic intellectual disabilities, cerebral palsy and CNS progressive disorders). It aims to describe cognitive/behavioural phenotypes, define indications for treatment and rehabilitation, and enhance knowledge acquired from clinical studies. The contents are addressed to child neurologists, psychiatrists, psychologists, paediatricians, geneticists, behavioural and speech therapists.

This book provides an update on paediatric neurological disorders with cerebellar involvement. The opening section of the volume is dedicated to the structure and function of cerebellum: the specific development of this organ, unlike other structures of the central nervous system, begins at a later stage of foetal development and lasts longer, even after birth, thus making the cerebellum particularly vulnerable to a wide range of insults, both genetic and acquired. Of particular interest are chapters that focus on cerebellar disorders which may occur in isolation, or else as part of more complex malformations of the posterior fossa or in association with other supratentorial anomalies. Such conditions may be encountered both as part of "static" congenital encephalopathies as well as in the frame of neurodegenerative or neurometabolic disorders. Besides, the recent advances in neuroimaging and genetics allow to better characterize and define the genetic basis of an increasing number of such conditions. The last part of the volume is dedicated to care and rehabilitation in cerebellar diseases: their correct diagnosis is pivotal in order to address patients to the appropriate genetic testing, plan clinical management and therapeutic strategies, and provide adequate counselling.

This volume provides advances in current knowledge on the diagnosis, neurobiology, pharmacologic therapy, and rehabilitation methods in autism, suggesting a potential influence on professional practice and enabling an up-to-date approach to effective diagnosis and treatment. Autism is an extremely complex neurodevelopmental disorder that is expressed in a spectrum of phenotypes and is characterized by impaired reciprocal social communication and stereotyped patterns of interests and activities. Its aetiopathogenesis remains poorly understood. It has become clear that causative genes interact with environmental factors in generating the disorder, but the molecular and pathogenic mechanisms causing the expression of the resulting mutations are not at all obvious. The candidate genes implicate an involvement of numerous brain regions and a concomitant malfunctioning of neurotransmitter, immunologic, and other mechanisms. These topics are reviewed in different presentations. Additionally, since the disorder lasts over the lifetime, other chapters focus on early intervention, discussing the most incisive rehabilitation models in their original formulation and the results achieved with the same or similar protocols in Italian centres. Finally, strong attention is paid to the psychopharmacologic options for the condition of autism per se and for its associated, very frequent, comorbidities.

This volume discusses the neural networks that process higher cognitive functions and behaviour patterns during the child’s developmental period. It takes as its point of departure the work presented in the previous volume, which dealt with basal nuclei, connection systems, cerebellum, and mirror neurons, and then focuses on the frontal lobes, the limbic system (hippocampus and amygdala) and visuocognitive systems. In the section on frontal lobes, the role of the mirror neurons’ parieto-frontal system is explained, followed by a discussion of disorders such as epilepsy, frontal lobe trauma, learning difficulties, and a whole range of neuropsychiatric disturbances. The chapters dedicated to the limbic system look at the hippocampus in relation to memory, language difficulties and associated behavioural disorders (including problems of attachment), and at the role of amygdala in autism and relational deprivation. A final section is dedicated to visual and visuocognitive functioning in children with focal brain lesions, prematurity, and neurodevelopmental disorders.

This book provides a comprehensive review and update of the newest diagnostic and therapeutic tools in paediatric neurology. Special attention is paid to neuroradiologic and neurophysiologic techniques and to their clinical application, with guidelines and suggestions on how an integrated approach can be used to reach diagnosis. Some of the chapters focus on the newborn infant and the first years of life, highlighting the most appropriate MRI, clinical, and EEG techniques to investigate the developing brain. State-of-the-art techniques used in older children are also presented that afford a better understanding of the correlation between function and brain structure in young patients with brain lesions. New genetic discoveries are particularly emphasized, as is the possibility of performing accurate phenotype–genotype correlation by combining the latest methods, such as muscle MRI and genetic information, in order to identify MRI patterns associated with specific genetic disorders. In all chapters an effort is made to combine technical data with clinical applications in order to show, when possible, how these novel procedures can also be used in rehabilitation. This book will be of interest to paediatricians, paediatric neurologists, neonatologists, and to all those who are involved in the diagnosis and care of children with neurologic disabilities.

The last fifteen years have witnessed the extraordinary evolution of basic and clinical research in the field of lysosomal storage diseases (LSDs), transforming many of them from dire, untreatable progressive diseases to conditions that allow for possible cure or mitigation. In addition to the presently employed techniques of haematopoietic stem cell transplantation and enzyme replacement for a number of lysosomal storage diseases, other therapeutic approaches are being developed that are based on different principles. The awareness that the efficacy of treatment is greater if administered at the first signs of disease or, even better, during the pre-symptomatic phase underscores the urgency of early clinical diagnosis. Efforts are being made to improve the clinical acumen of paediatricians, paediatric surgeons and neurologists, rheumatologists, orthopaedists, and other professionals who come into early contact with children with LSDs. The possibility of including some of these disorders in routine neonatal screening is also a matter of discussion. This volume provides an updated overview of epidemiologic, biochemical, genetic, pathogenetic, and clinical aspects of these disorders and outlines the various treatment options currently available for the LSDs. The need for patients with rare diseases like LSDs to be followed-up in a specialized centre is emphasized in view of the many kinds of multidisciplinary treatment that are needed to improve the quality of life and survival of these children.

Advances in the neurocognitive sciences, aided by increased imaging power, have extensively confirmed that during early development specific areas of a child’s brain are designed to process specific functions—neurologic, cognitive, linguistic, motoric, and visuospatial, among others—and that this processing involves globally complex interconnections with other areas distributed throughout the brain: a lesion in a given area interferes with the functioning and coherence of the system as a whole. This volume discusses the consequences of early brain injury to many parts of the brain, including the basal ganglia, with their related disorders of aphasia, OCD, and AD/HD, as well as white matter and its associated neuropsychological impairment of intelligence, language, and visuoperception. The corpus callosum and cerebellum are studied as they relate to learning motor sequences and language as well as communication disorders and social behavior. This book also looks at mirror neurons as they affect the understanding of others’ intentions and the development of empathy and gestural and other forms of language. The implications of these findings are examined since they have a critical effect on the rehabilitative and educational efforts that are being designed to mitigate the effects of early brain lesions on the growing child.

Recent advances in the field of developmental neuroscience have been quite exciting, especially as they pertain to infants and children, in whom neurologic development proceeds more rapidly than at any other time of life. So much has now been learned of normal neurologic development, which in turn informs the more pressing work of understanding how these normal functions become disordered by genetic, physical, or neurochemical mishaps. The information thus gained can, it is hoped, provide clinicians with the means to improve both their diagnostic and therapeutic tools and, more importantly, to use this understanding in the service of preventing or mitigating the effects of these childhood neurologic disorders. The physiologic and pathologic signs of neurologic diseases are better understood in the light of the current gains made in the fields of paediatric neurophysiology, neurochemistry, neuroimaging, and genetics. This progress in knowledge can assuredly help the clinician to recognize the nature of the disorder and to plan the most appropriate and effective measures to improve the quality of the affected child’s life. This volume, a special issue in collaboration with John Libbey Eurotext, celebrates the 25th year of existence of the Mariani Foundation, whose mission is to provide paediatric neurologists and all clinicians with the most current knowledge in order to care for children with neurologic disabilities and their families towards achieving the best life they can have.

This volume provides updated information on epilepsy genes, on the clinical picture of genetic epilepsies discovered so far, and on conceptual advances in the complicated area of genotype-phenotype correlations. Recent studies on monogenic epilepsies present new insights into mechanisms whereby a mutation of a single gene, coding for an ion channel, can result in a complex epileptic phenotype. The analysis of genetically-determined epileptogenic dysplasia is advancing our understanding of the role of genes in controlling normal and pathological brain development. The pathogenic mechanisms by which gene mutations determine progressive myoclonus epilepsies offer critical opportunities to understand the role of genetic factors in neurodegenerative phenomena associated with an even broader range of progressive epilepsy types. The specialists who have contributed to this book are outstanding international experts in their respective fields, ensuring first and foremost that the reviews are of relevance to clinicians dealing with epilepsy in their daily practice, as well as providing the highest quality scientific information for biomedical research.